ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.466A>G (p.Ile156Val)

dbSNP: rs780611743
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732251 SCV000860176 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Invitae RCV001855679 SCV002277901 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-03-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 156 of the CAPN3 protein (p.Ile156Val). This variant is present in population databases (rs780611743, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 596420). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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